Rare diseases haunt their sufferers

A Gauteng family is fighting an uphill battle to give their two-year-old daughter who suffers from a rare disease the gift of walking.

Little Phenyo Moropa of Midrand was diagnosed with tibial hemimelia, a rare congenital limb deficiency which affects one out of a million babies in the world.

Sowetan spoke to Phenyo's father Tshepo Moropa on Tuesday ahead of the Rare Disease Day campaign on Wednesday meant to bring awareness to the plight of people such as Phenyo who suffer from unusual diseases.

According to Rare Diseases South Africa, one in every seven people in the country are affected by a rare disease. However, 95% of these diseases do not have approved drugs.

After numerous failed attempts to get their child treatment in South Africa, Tshepo and his wife Moipone started a campaign to raise over R2-million for Phenyo to get surgery.

Moropa said the past two years had been challenging, with experts in the country telling them to have the little girl's leg amputated.

Moropa said they discovered an expert doctor in Florida, US, who treats the disease.

"We are not going to give up because this can be rectified. There are days when we feel like throwing in the towel, but when you look at her it makes you want to keep pushing."

Part of Phenyo's tibia bone is missing which causes her right leg to curl up. This means that the wide-eyed toddler is unable to walk and has to crawl on her knees to move around.

"At times I break down looking at her when she tries to keep up with other children. It's difficult," Moropa said.

Moropa said they had managed to raise some funds through donations, but the journey was not easy. "All we are asking is for people to open up their hearts so we can save our daughter's leg. We want the best for her."

Mahlatse Mothiba, a second-year student at the University of Johannesburg, who suffers from lupus has to take about 20 tablets daily.

Mothiba, who was diagnosed with lupus in 2015, said: "Pain is an everyday thing. I'm like an old person without the memories of my childhood. I can't do half the things that my peers can do."